Prenatal diagnosis and management of a new autosomal recessive skeletal dysplasia.
We present a rare case of bilateral absence of fibula, hypoplastic femurs, ankylosis of knee joints and talipes equinovarus in a woman who had a previously affected offspring with similar defects. Antenatal diagnosis, management and a short review of the literature are presented.
Roy
K K
KK
Department of Obstetrics & Gynecology, All India Institute of Medical Sciences, New Delhi.
Mittal
S
S
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000028:Abortion, Induced; D000328:Adult; D000844:Ankylosis / Q000151:congenital; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D003025:Clubfoot; D005260:Female; D005269:Femur / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007719:Knee Joint / Q000002:abnormalities*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal